Abstract
The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation of the gene completely turns off and does not produce the protein needed to make certain all other genes function properly. It is linked to other disorders. There are many characteristics connected to Fragile X. For example, neurological, physical, and psychiatric. The cognitive and behavioral attributes are more significant since they affect how the child will learn and function. Fragile X children are oversensitive to noise and the activity going on nearby. They will often throw tantrums and be aggressive (Braden, M., n.d.). Although, this syndrome does not have a cure these children may be helped with early intervention. Methods of
…show more content…
The gene is mutated and it affects more males than females. Individuals with Fragile X have a large number of defects and disabilities including physical, cognitive, and neurobehavioral features (Jewell, J., 2004). This disability is caused by a gene that inactive which is the X chromosome. There is no known cure, yet, options are available to those who have this disorder. Individuals may receive speech therapy, physical therapy, and psychological services. For children attending school they may qualify for special education. Delays in cognition and learning are often associated with this syndrome. That's why; learning can be more challenging for these individuals. The impairments differ for those impacted with the syndrome. Accommodations are essential in order to meet the needs for each …show more content…
Genes are often named after their condition. The gene is called FMR1 gene; this acronym stands for Fragile X Mental Retardation gene. It is typical of the FMR1 gene to repeat seven to sixty times the CGG pattern. This is normally repeated approximately 30 times; however, in this instance it repeats well above the average. An individual with the syndrome may have well over 200 repeats of the gene. With such high numbers of the gene created the methyl group bind together with the C bases (or cytosine) affecting the gene and causing it to be deactivated. This gene is present in everyone and is responsible for the development of the brain and testes by producing a protein that allows other genes to work normally (Saunders, S., 1999). Due to the gene not functioning, it does not create the protein needed for brain development. This is how Fragile X Syndrome
A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.
Approximately one-third of the females with Fragile X Syndrome have a substantial learning disability, the other two-thirds have mild to moderate intellectual disabilities. This two-thirds may also experience issues related to their mental/emotional health as well as social and/or general anxiety disorders. Although rare, there are some females whose FMR1 Gene, which is the gene responsible for causing FXS, fully mutates; thus, eliminating any apparent signs of Fragile X Syndrome. These females usually remain undiagnosed until another family member is diagnosed with the syndrome.
This causes delays that, to me, are similar to Down’s syndrome. Mild to severe delays can be present with this diagnosis. The OTR at my site explained that with any chromosomal defect, the delays that occur will depend on the chromosome that is affected. Just like Down’s syndrome has its own characteristics, this defect has its own characteristics too. The child that I get to treat with this diagnosis is non-verbal, she is very low tone and also has some visual and hearing impairments. She also demonstrates sensory integrations problems. She is a very pleasant eight year old and for the most part is very willing to work. It is difficult to work with a child that is non-verbal. I feel like a mind reader some days! I really have to watch her expressions to figure out if she can or wants to do something. Some of the activities I try to do, she does not want to do. I do not give her a choice; she at least has to try. When she is finished, she plops to the ground and lays down! She plants herself like she is modeling in a photo
Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.
Did you know that about 1 in 4,000 males and 1 in 8,000 females are affected by Fragile X Syndrome(CDC)? Fragile X Syndrome affects does not only affect the young or the old but it will affect anyone of any age. Children who have Fragile X Syndrome can learn many different ways of communicating with others. Also there are many ways to help a Fragile X children become more socially active. There are many ways to help Fragile X Syndrome children to communicate.
Research indicates that FXS is prevalent in one in every 4,000 people (Reiss & Hall, 2007). If parents or doctors suspect FXS, genetic tests can confirm the diagnosis (Sherman et al., 2005). There is not an established medication to treat FXS; however, some medications may lower comorbid symptoms (Reiss & Hall, 2007). Individuals with FXS generally have comorbid conditions; for example, they may have attention problems, intellectual disabilities, or autism spectrum disorder (Bailey et al., 2008). Therefore, education interventions may be aimed at treated the associated factors (Hall et al.,
Fragile X is a genetic condition that causes a variety of physical, social, and intellectual disabilities. Affected children experience developmental setbacks such as taking longer to sit, walk, or talk in contrast to other of a similar age group. Affected people show certain symptoms, in childhood and as they grow into adults, and through adulthood. Behavioral and neurological symptoms of Fragile X syndrome can include stuttering, anxiety, impulsiveness, seizures, depression, disorganized speech, balance problems, intellectual and learning disabilities, hyperactivity, attention difficulties, and social issues. Numerous people with Fragile X syndrome can also experience physical abnormalities. These can
An example of a recessive x-linked disorder is fragile x-syndrome or FXS. Fragile x-syndrome affects a person’s behavior, learning, intellectual, as well as physical characteristics. Fragile x-syndrome is more likely to affect males over females and does not shorten their life expectancy. Males who have FXS can have ADD or ADHD, autism, aggression and other behavioral traits. Men can have physical alterations such as a long face, large ears, and flat feet. Women who have FXS can experience the same behavioral traits but are usually milder in comparison to men. The same is shown through the facial features for women (National Fragile X Foundation,
Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.
Associated characteristics, impairments, and medical complications: Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Fragile X-associated tremor/ataxia
There are many forms of mental retardation. Webster’s New World Dictionary defines mental retardation as “a condition, usually congenital, characterized by subnormal intelligence” (Agnes, p404). Mental retardation can be caused by a certain birth defect due to a traumatic event during the mother’s pregnancy, or mental retardation can also be inherited. The most common inherited form of mental retardation is Fragile X Syndrome.
The sooner a child can get help, the more opportunity for learning because their brain is still forming. Early intervention provides the best chance of developing to their full potential. With proper education, therapy, and support, all people with FXS can make progress. All children with FXS from age 3 to 21, qualify for free education under the law. They can be placed into one of three types of classrooms: regular, partial, and special. Regular classroom settings are the typical classrooms, partial classroom setting have children participate in some regular classes but also smaller classes based on a child’s needs, special classrooms are for children who need extra support at all times. Every state also operates an early intervention program from children from birth to age 3. Therapy such as speech, occupational, physical, and behavioral can help. It is free in a school setting, but it costs money that insurance may or may not cover in a private setting. Speech therapy helps improve pronunciation of words, slow down speech, and use language more effectively. Occupational therapy adjusts tasks and conditions to help ensure the patient feels comfortable. Physical therapy designs activities and exercises to improve posture and balance. Behavioral therapy identifies why a child acts in negative ways and find
Congratulation! You’re expecting a child! Both you and your partner are thrilled that you got a child, but until doctor say you that your child has Fragile X Syndrome. Fragile X syndrome the disease that was passed down from your parents to children through their genes. However, it’s causes logical and developmental disabilities.
Genetic diseases could be related to this group. Having appeared as the result of some failure of the formation of genes, they are hard to treat and usually could be diagnosed since childhood. Autism is one of these diseases. The main reasons for the appearance of autism is the disturbance of the development of the brain of a person which results in the appearance of various symptoms among patients. They are characterized by the problems with social interaction, verbal and non-verbal communication and the repetitive behavior ("Benefits of Occupational Therapy for Autism" para. 2). It is obvious that the given
Children with P.W.S are considered special needs. This is due to one of the disorders side effects causing mental disabilities. This restricts the child from learning and processing things like people without this genetic disorder. Children with P.W.S in most cases have to be supervised to avoid eating unhealthy foods ( can cause obesity in children if not monitored there have been many cases of children dying from this) and to avoid temper outburst to other students and to teachers. There has been no known case of any child or person affected by the genetic disorder living on their own without